Rare disease companies develop diagnostics, therapies and research technologies for conditions affecting relatively small patient populations. Their work often focuses on inherited disorders, complex diagnostic pathways and diseases with limited or no existing treatment options.
This category includes companies working on:
Browse 118 UK rare disease companies below.
Small molecule drug discovery targeting rare genetic diseases and oncology
Tay Therapeutics is a drug discovery company developing targeted small molecule therapies for rare genetic diseases and cancer. Its platform uses stop codon read-through…
Clinical-stage antifungal drug developer targeting invasive fungal infections
F2G is a clinical-stage biopharmaceutical company developing novel antifungal therapies for life-threatening invasive fungal infections. The company discovered the orotomides, a…
Drug discovery platform targeting biomolecular condensates
Transition Bio is a biotechnology company developing a drug discovery platform based on the biology of biomolecular condensates, the membrane-less cellular structures implicated…
Transformative medicines for cystic fibrosis and serious genetic diseases
Vertex Pharmaceuticals is a global biopharmaceutical company with its European R&D headquarters at Milton Park, Oxfordshire, and its international commercial headquarters in…
UK commercial base for a rare metabolic disease biotech
Amicus Therapeutics UK is the British subsidiary of Amicus Therapeutics, a US-listed biotechnology company focused on rare metabolic diseases. The company develops enzyme…
Clinical-stage therapeutics for advanced liver disease
Yaqrit is a clinical-stage biotechnology company developing treatments for patients with advanced liver disease, including cirrhosis and acute-on-chronic liver failure. Its…
Precision medicines targeting protein isoforms for neuromuscular disease
ISOgenix is a biotechnology company developing precision medicines that target disease-relevant protein isoforms for neuromuscular and neurological conditions. The company's…
AAV gene therapy platform targeting podocyte-mediated kidney disease
Purespring Therapeutics is a clinical-stage biotech developing AAV-based gene therapies for chronic kidney disease. Its platform delivers therapeutic transgenes directly to…
AI-powered rare disease case finding for primary care
Mendelian is a digital health software company developing AI-driven tools to support the earlier diagnosis of rare diseases in primary care. Its core product is a Class 1…
Mitochondrial sulfide-donor therapeutics for obesity and myopathies
MitoRx Therapeutics is a company developing first-in-class small molecule therapeutics that target mitochondrial sulfide signalling, a mechanism implicated in metabolic…
Specialist CRO for rare disease drug development and commercialisation
TMC Pharma Services is a contract research organisation specialising in drug development support for rare and orphan diseases. The company serves small and mid-sized biotech and…
Convection enhanced delivery consulting and devices for CNS therapeutics
Neurochase is a contract research and consulting organisation specialising in targeted drug delivery to the CNS using convection enhanced delivery. Working with pharmaceutical and…